The syndrome now known as microcephaly associated with congenital lymphedema and chorioretinopathy (MLCR) was first described in 1980 by Alzial et al.1 Microcephaly with chorioretinal dysplasia has been reported to be inherited in an autosomal dominant or autosomal recessive manner and has a variety of associations, including lymphedema and mental retardation. Our patient displayed all 4 of these clinical characteristics and appeared to manifest an autosomal dominant inheritance pattern.
Mears K, Bakall B, Harney LA, Penticoff JA, Stone EM. Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. JAMA Ophthalmol. 2015;133(6):720-721. doi:10.1001/jamaophthalmol.2015.199